Canonical Allele Identifier: CA401463603

Gene: NPLOC4

Linked Data

• dbSNP Id: rs1192281457
• gnomAD v2: 17-79596825-G-C
• gnomAD v4: 17-81629799-G-C
• MyVariant Identifiers: chr17:g.79596825G>C (hg19) ; chr17:g.81629799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629799G>C , CM000679.2:g.81629799G>C	GRCh38
NC_000017.10:g.79596825G>C , CM000679.1:g.79596825G>C	GRCh37
NC_000017.9:g.77207230G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000705719.1:c.151C>G	ENSP00000516165.1:p.Arg51Gly
ENST00000331134.11:c.22C>G MANE Select	ENSP00000331487.5:p.Arg8Gly
ENST00000331134.10:c.22C>G	ENSP00000331487.5:p.Arg8Gly
ENST00000374747.9:c.22C>G	ENSP00000363879.5:p.Arg8Gly
ENST00000570300.1:n.43C>G
ENST00000574897.5:c.22C>G	ENSP00000461543.1:p.Arg8Gly
ENST00000625705.1:c.19C>G	ENSP00000486640.1:p.Arg7Gly
NM_017921.3:c.22C>G	NP_060391.2:p.Arg8Gly
XM_011524979.1:c.22C>G	XP_011523281.1:p.Arg8Gly
XM_011524980.1:c.22C>G	XP_011523282.1:p.Arg8Gly
XM_011524981.1:c.22C>G	XP_011523283.1:p.Arg8Gly
XM_011524982.1:c.22C>G	XP_011523284.1:p.Arg8Gly
XR_934501.1:n.240C>G
XR_934502.1:n.240C>G
XM_011524982.2:c.22C>G	XP_011523284.1:p.Arg8Gly
XR_001752557.1:n.240C>G
NM_017921.4:c.22C>G MANE Select	NP_060391.2:p.Arg8Gly
NM_001369698.1:c.22C>G	NP_001356627.1:p.Arg8Gly